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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2616034840
Gene: DRD2
HGNC
NCBI
Linked Data
gnomAD v4:
11-113475475-GCCCCGC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475486_113475491del , CM000673.2:g.113475486_113475491del
GRCh38
NC_000011.9:g.113346208_113346213del , CM000673.1:g.113346208_113346213del
GRCh37
NC_000011.8:g.112851418_112851423del
NCBI36
NG_008841.1:g.4799_4804del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000540600.5:n.34+177_34+182del
Search 100 bp 5'
Search 100 bp 3'